ClinVar Genomic variation as it relates to human health
NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)
Variation ID: 2584503 Accession: VCV002584503.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 2q36.3 2: 229791964 (GRCh38) [ NCBI UCSC ] 2: 230656680 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 21, 2023 Oct 21, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001348323.3:c.4317del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001335252.1:p.Gln1440fs frameshift NM_001284214.2:c.4236del NP_001271143.1:p.Gln1413fs frameshift NM_001284215.2:c.4191del NP_001271144.1:p.Gln1398fs frameshift NM_001284216.2:c.3282del NP_001271145.1:p.Gln1095fs frameshift NM_001348315.2:c.4236del NP_001335244.1:p.Gln1413fs frameshift NM_001348316.2:c.4191del NP_001335245.1:p.Gln1398fs frameshift NM_001348317.1:c.4176del NP_001335246.1:p.Gln1393fs frameshift NM_001348318.2:c.4176del NP_001335247.1:p.Gln1393fs frameshift NM_001348319.1:c.4302del NP_001335248.1:p.Gln1435fs frameshift NM_001348320.2:c.4302del NP_001335249.1:p.Gln1435fs frameshift NM_001348321.1:c.4305del NP_001335250.1:p.Gln1436fs frameshift NM_001348322.1:c.4317del NP_001335251.1:p.Gln1440fs frameshift NM_001348324.2:c.4317del NP_001335253.1:p.Gln1440fs frameshift NM_001348325.2:c.4317del NP_001335254.1:p.Gln1440fs frameshift NM_001348326.2:c.4317del NP_001335255.1:p.Gln1440fs frameshift NM_001348327.2:c.4317del NP_001335256.1:p.Gln1440fs frameshift NM_001348328.1:c.4320del NP_001335257.1:p.Gln1441fs frameshift NM_001348329.2:c.4320del NP_001335258.1:p.Gln1441fs frameshift NM_001348330.2:c.4320del NP_001335259.1:p.Gln1441fs frameshift NM_001348331.1:c.4095del NP_001335260.1:p.Gln1366fs frameshift NM_001348332.1:c.4215del NP_001335261.1:p.Gln1406fs frameshift NM_001348333.1:c.4239del NP_001335262.1:p.Gln1414fs frameshift NM_004238.3:c.4092del NP_004229.1:p.Gln1365fs frameshift NC_000002.12:g.229791965del NC_000002.11:g.230656681del NG_053017.1:g.136271del - Protein change
- Q1095fs, Q1365fs, Q1366fs, Q1393fs, Q1398fs, Q1406fs, Q1413fs, Q1414fs, Q1435fs, Q1436fs, Q1440fs, Q1441fs
- Other names
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- Canonical SPDI
- NC_000002.12:229791963:CC:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
378 | 432 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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- | RCV003335943.1 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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CLARK-BARAITSER SYNDROME
Affected status: yes
Allele origin:
germline
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Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV004046316.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
This frameshifting variant in exon 27 of 50 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function … (more)
This frameshifting variant in exon 27 of 50 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. Loss-of-function variation in TRIP12 is reported in individuals with Clark-Baraitser syndrome (PMID: 27848077, 28251352). The c.4092del (p.Gln1365SerfsTer20) variant is absent from the gnomAD population database and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.4092del (p.Gln1365SerfsTer20) variant is classified as Pathogenic. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.